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Anzahl der Publikationen: 14
Zeitschriftenartikel
Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis und Durr, Alexandra
(2023):
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
In: American Journal of Human Genetics, Bd. 110, Nr. 7:
1098-+
Porcu, Luca; Fichera, Mario; Nanetti, Lorenzo; Rulli, Eliana; Giunti, Paola; Parkinson, Michael H.; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Indelicato, Elisabetta; Klopstock, Thomas; Stendel, Claudia; de Rivera, Francisco Javier Rodriguez; Schoels, Ludger; Fleszar, Zofia; Giordano, Ilaria; Didszun, Claire; Castaldo, Anna; Rai, Myriam; Klockgether, Thomas; Pandolfo, Massimo; Schulz, Joerg B.; Reetz, Kathrin und Mariotti, Caterina
(2023):
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
In: Annals of Clinical and Translational Neurology, Bd. 10, Nr. 11: S. 2000-2012
[PDF, 1MB]
Vondel, Liedewei van de; De Winter, Jonathan; Beijer, Danique; Coarelli, Giulia; Wayand, Melanie; Palvadeau, Robin; Pauly, Martje G.; Klein, Katrin; Rautenberg, Maren; Guillot-Noel, Lena; Deconinck, Tine; Vural, Atay; Ertan, Sibel; Dogu, Okan; Uysal, Hilmi; Brankovic, Vesna; Herzog, Rebecca; Brice, Alexis; Durr, Alexandra; Klebe, Stephan; Stock, Friedrich; Bischoff, Almut Turid; Rattay, Tim W.; Sobrido, Maria-Jesus; De Michele, Giovanna; De Jonghe, Peter; Klopstock, Thomas; Lohmann, Katja; Zanni, Ginevra; Santorelli, Filippo M.; Timmerman, Vincent; Haack, Tobias B.; Zuchner, Stephan; Schuele, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Basak, A. Nazli und Baets, Jonathan
(2022):
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
In: Movement Disorders, Bd. 37, Nr. 6: S. 1175-1186
[PDF, 1MB]
Hohenfeld, Christian; Terstiege, Ulrich; Dogan, Imis; Giunti, Paola; Parkinson, Michael H.; Mariotti, Caterina; Nanetti, Lorenzo; Fichera, Mario; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; de Rivera Garrido, Francisco Javier Rodriguez; Schoels, Ludger; Hayer, Stefanie N.; Klockgether, Thomas; Giordano, Ilaria; Didszun, Claire; Rai, Myriam; Pandolfo, Massimo; Rauhut, Holger 
ORCID: https://orcid.org/0000-0003-4750-5092; Schulz, Joerg B. und Reetz, Kathrin
(2022):
Prediction of the disease course in Friedreich ataxia.
In: Scientific Reports, Bd. 12, Nr. 1, 19173
[PDF, 1MB]
ORCID: https://orcid.org/0000-0003-4750-5092; Schulz, Joerg B. und Reetz, Kathrin
(2022):
Prediction of the disease course in Friedreich ataxia.
In: Scientific Reports, Bd. 12, Nr. 1, 19173
[PDF, 1MB]
Reetz, Kathrin; Dogan, Imis; Hilgers, Ralf-Dieter; Giunti, Paola; Parkinson, Michael H.; Mariotti, Caterina; Nanetti, Lorenzo; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; de Rivera Garrido, Francisco Javier Rodriguez; Rummey, Christian; Schoels, Ludger; Hayer, Stefanie N.; Klockgether, Thomas; Giordano, Ilaria; Didszun, Claire; Rai, Myriam; Pandolfo, Massimo und Schulz, Jorg B.
(2021):
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.
In: Lancet Neurology, Bd. 20, Nr. 5: S. 362-372
Traschuetz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Basak, A. Nazli; Hanagasi, Hasmet; Kurul, Semra Hiz; Bender, Benjamin; Schoels, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; Warrenburg, Bart van de; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; König, Michel; Santorelli, Filippo M.; Anheim, Mathieu; Munhoz, Renato P.; Haack, Tobias; Distelmaier, Felix; Pagliarini, David J.; Puccio, Helene und Synofzik, Matthis
(2020):
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
In: Annals of Neurology, Bd. 88, Nr. 2: S. 251-263
[PDF, 7MB]
Hayer, Stefanie Nicole; Liepelt, Inga; Barro, Christian; Wilke, Carlo; Kuhle, Jens; Martus, Peter; Schoels, Ludger; Schulz, Jörg Bernhard; Reetz, Kathrin; Fedosov, Kathrin; Didszun, Claire; Klockgether, Thomas; Giordano, Ilaria; Pandolfo, Massimo; Depondt, Chantal; Rai, Myriam; Boesch, Sylvia; Nachbauer, Wolfgang; Eigentler, Andreas; Indelicato, Elisabetta; Giunti, Paola; Parkinson, Michael; Manso, Katarina; Thomas-Black, Gilbert; Garcia-Moreno, Hector; Solanky, Nita; Abeti, Rosella; Polke, James; Labrum, Robin; Garrido, Rodriguez de Rivera Francisco Javier; Mascias, Javier; Velasco, Sanchez Sara; Garcia, Secades Sergio; Mariotti, Caterina; Nanetti, Lorenzo; Castaldo, Anna; Mongelli, Alessia; Fichera, Mario; Klopstock, Thomas; Karin, Ivan; Stendel, Claudia; Radelfahr, Florentine; Durr, Alexandra; Biet, Marie; Charles, Perrine; Ewenczyk, Claire; Just, Jennifer; Koutsis, Georgios; Walsh, Richard und Bertini, Enrico
(2020):
NfL and pNfH are increased in Friedreich's ataxia.
In: Journal of Neurology, Bd. 267, Nr. 5: S. 1420-1430
Indelicato, Elisabetta; Nachbauer, Wolfgang; Eigentler, Andreas; Amprosi, Matthias; Gothe, Raffaella Matteucci; Giunti, Paola; Mariotti, Caterina; Arpa, Javier; Durr, Alexandra; Klopstock, Thomas; Schoels, Ludger; Giordano, Ilaria; Bürk, Katrin; Pandolfo, Massimo; Didszdun, Claire; Schulz, Jörg B. und Bösch, Sylvia
(2020):
Onset features and time to diagnosis in Friedreich's Ataxia.
In: Orphanet Journal of Rare Diseases, Bd. 15, Nr. 1, 198
Coarelli, Giulia; Schule, Rebecca; van de Warrenburg, Bart P. C.; De Jonghe, Peter; Ewenczyk, Claire; Martinuzzi, Andrea; Synofzik, Matthis; Hamer, Elisa G.; Baets, Jonathan; Anheim, Mathieu; Schoels, Ludger; Deconinck, Tine; Masrori, Pegah; Fontaine, Bertrand; Klockgether, Thomas; D'Angelo, Maria Grazia; Monin, Marie-Lorraine; De Bleecker, Jan; Migeotte, Isabelle; Charles, Perrine; Bassi, Maria Teresa; Klopstock, Thomas; Mochel, Fanny; Ollagnon-Roman, Elisabeth; D'Hooghe, Marc; Kamm, Christoph; Kurzwelly, Delia; Papin, Melanie; Davoine, Claire-Sophie; Banneau, Guillaume; du Montcel, Sophie Tezenas; Seilhean, Danielle; Brice, Alexis; Duyckaerts, Charles; Stevanin, Giovanni und Durr, Alexandra
(2019):
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
In: Neurology, Bd. 92, Nr. 23, E2679-E2690
Reetz, Kathrin; Hilgers, Ralf-Dieter; Isfort, Susanne; Dohmen, Marc; Didszun, Claire; Fedosov, Kathrin; Kistermann, Jennifer; Mariotti, Caterina; Durr, Alexandra; Boesch, Sylvia A.; Klopstock, Thomas; Garrido, Francisco Javier Rodriguez de Rivera; Schoels, Ludger; Klockgether, Thomas; Pandolfo, Massimo; Korinthenberg, Rudolf; Lavin, Philip; Molenberghs, Geert; Libri, Vincenzo; Giunti, Paola; Festenstein, Richard und Schulz, Joerg B.
(2019):
Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA).
In: Neurological Research and Practice, Bd. 1, Nr. 1, 33
[PDF, 1MB]
Reetz, Kathrin; Dogan, Imis; Hohenfeld, Christian; Didszun, Claire; Giunti, Paola; Mariotti, Caterina; Durr, Alexandra; Bösch, Sylvia; Klopstock, Thomas; Rodriguez de Rivera Garrid, Francisco Javier; Schöls, Ludger; Giordano, Ilaria; Buerk, Katrin; Pandolfo, Massimo und Schulz, Jörg B.
(2018):
Nonataxia symptoms in Friedreich Ataxia Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).
In: Neurology, Bd. 91, Nr. 10, E917-E930
[PDF, 475kB]
Melac, Audrey Tanguy; Mariotti, Caterina; Pierucci, Antoine Filipovic; Giunti, Paola; Arpa, Javier; Bösch, Sylvia; Klopstock, Thomas; vom Hagen, Jennifer Müller; Klockgether, Thomas; Buerk, Katrin; Schulz, Jörg B.; Reetz, Kathrin; Pandolfo, Massimo; Durr, Alexandra und du Montcel, Sophie Tezenas
(2018):
Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 89, Nr. 6: S. 559-565
[PDF, 363kB]
Reetz, Kathrin; Dogan, Imis; Hilgers, Ralf-Dieter; Giunti, Paola; Mariotti, Caterina; Durr, Alexandra; Boesch, Sylvia; Klopstock, Thomas; Rodriguez de Rivera, Francisco Javier; Schöls, Ludger; Klockgether, Thomas; Bürk, Katrin; Rai, Myriam; Pandolfo, Massimo und Schulz, Jörg B.
(2016):
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study.
In: Lancet Neurology, Bd. 15, Nr. 13: S. 1346-1354
Synofzik, Matthis; Smets, Katrien; Mallaret, Martial; Di Bella, Daniela; Gallenmüller, Constanze; Baets, Jonathan; Schulze, Martin; Magri, Stefania; Sarto, Elisa; Mustafa, Mona; Deconinck, Tine; Haack, Tobias; Züchner, Stephan; Gonzalez, Michael; Timmann, Dagmar; Stendel, Claudia; Klopstock, Thomas; Durr, Alexandra; Tranchant, Christine; Sturm, Marc; Hamza, Wahiba; Nanetti, Lorenzo; Mariotti, Caterina; Koenig, Michel; Schöls, Ludger; Schüle, Rebecca; Jonghe, Peter de; Anheim, Mathieu; Taroni, Franco und Bauer, Peter
(2016):
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
In: Brain, Bd. 139: S. 1378-1393